Fragile X syndrome

Overview

How common is fragile X syndrome?

Testing of the FMR1 gene has helped estimate how common fragile X syndrome is in the population. Studies have shown that approximately 16 to 25 males in every 100,000 males has fragile X syndrome. Researchers believe the number of females with fragile X syndrome is half the number of males who are affected (approximately 8 to 12 females in every 100,000 females). For another way to look at these numbers, studies have shown that approximately 1 in 3600 males and 1 in 4000 to 6000 females has fragile X syndrome (the full mutations, greater than 200 CGG repeats).

More information and support for those with fragile X syndrome and their families can be found by visiting the National Fragile X Foundation.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fragile-x-syndrome/overview/18022 • DATE UPDATED: 2016-06-10

References

http://www.ncbi.nlm.nih.gov/books/NBK1384/

http://www.who.int/genomics/public/geneticdiseases/en/index2.html#Fragile%20X%20Disease

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